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目的 探讨遗传性非息肉病性大肠癌 (HNPCC)的临床特征 ,为大肠癌的靶向筛检、早期诊断提供依据。 方法 通过家族调查、系谱分析、手术病理和定期随访等手段追踪调查 4个HNPCC家系 ,共计 15岁以上成员 84人。 结果 确诊患者 2 3例 (A组 ) ,与确切无家族史者 (B组 ) 30例相比 :(1)平均发病年龄 :A组 43 0岁 ,B组 6 1 4岁 ,平均年轻 18 4岁 ;低于 5 0 0岁者 :A组 78 3% (18/2 3) ,B组 2 6 7% (8/ 30 ,P <0 0 1) ;第 1、2、3代平均年龄分别为 6 7 8、45 3、32 5岁 ,逐代比较差异有显著性意义 (P <0 0 5和P <0 0 1)。 (2 )病变部位 :右半结肠A组 73 9% (17/ 2 3) ,B组 36 7% (11/ 30 ,P<0 0 1) ,(3)合并腺瘤 :A组 0 ,B组 2 3 3% (7/ 30 ,P <0 0 5 )。 (4 )低分化腺癌 :A组 76 2 % (16 / 2 1) ,B组36 7% (11/ 30 ,P <0 0 1)。 结论 HNPCC患者临床并非少见 ,且具有典型的遗传特征
Objective To investigate the clinical features of hereditary nonpolyposis colorectal cancer (HNPCC) and provide the basis for targeted screening and early diagnosis of colorectal cancer. Methods Four HNPCC pedigrees were investigated through family survey, pedigree analysis, surgical pathology and regular follow-up. The total number of 84-year-olds was 84 years old. Results A total of 23 patients (group A) were diagnosed as having no family history (group B). (1) The average age of onset was 43 0 in group A and 6 14 in group B, with an average of 18 4 Years old; less than 500 years old: 78 3% (18/2) in group A, 26.7% (8/30, P <0.01) in group B; 6 7 8,45 3,32 5 years old, the difference was statistically significant by generation (P <0 05 and P 0 01). (2) Lesion: 73 9% (17/2 3) in the right colon, 36 7% (11/30, P 0 01) in group B, (3) Group 2 3 3% (7/30, P <0 05). (4) In poorly differentiated adenocarcinoma, 76 2% (16/21) in group A and 36.7% (11/30, P <0.01) in group B, respectively. Conclusion HNPCC patients are not uncommon clinical, and have typical genetic characteristics